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Aliases for PSD4 Gene

Aliases for PSD4 Gene

  • Pleckstrin And Sec7 Domain Containing 4 2 3 5
  • Exchange Factor For ADP-Ribosylation Factor Guanine Nucleotide Factor 6 B 3 4
  • Pleckstrin Homology And SEC7 Domain-Containing Protein 4 3 4
  • Telomeric Of Interleukin-1 Cluster Protein 3 4
  • Exchange Factor For ARF6 B 3 4
  • EFA6B 3 4
  • TIC 3 4
  • Exchange Factor For ADP-Ribosylation Factor Guanine Nucleotide Factor 6B 3
  • ADP-Ribosylation Factor Guanine Nucleotide-Exchange Factor 6 3
  • SEC7 Homolog 3

External Ids for PSD4 Gene

Previous GeneCards Identifiers for PSD4 Gene

  • GC00U916999
  • GC02P113647
  • GC02P113914
  • GC02P106385

Summaries for PSD4 Gene

GeneCards Summary for PSD4 Gene

PSD4 (Pleckstrin And Sec7 Domain Containing 4) is a Protein Coding gene. Among its related pathways are Endocytosis. GO annotations related to this gene include phospholipid binding and ARF guanyl-nucleotide exchange factor activity. An important paralog of this gene is ENSG00000268465.

UniProtKB/Swiss-Prot for PSD4 Gene

  • Guanine nucleotide exchange factor for ARF6 and ARL14/ARF7. Through ARL14 activation, controls the movement of MHC class II-containing vesicles along the actin cytoskeleton in dendritic cells. Involved in membrane recycling. Interacts with several phosphatidylinositol phosphate species, including phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 4,5-bisphosphate.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSD4 Gene

Genomics for PSD4 Gene

Regulatory Elements for PSD4 Gene

Promoters for PSD4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PSD4 on UCSC Golden Path with GeneCards custom track

Genomic Location for PSD4 Gene

Chromosome:
2
Start:
113,157,325 bp from pter
End:
113,209,396 bp from pter
Size:
52,072 bases
Orientation:
Plus strand

Genomic View for PSD4 Gene

Genes around PSD4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSD4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSD4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSD4 Gene

Proteins for PSD4 Gene

  • Protein details for PSD4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NDX1-PSD4_HUMAN
    Recommended name:
    PH and SEC7 domain-containing protein 4
    Protein Accession:
    Q8NDX1
    Secondary Accessions:
    • A6NEG7
    • A8K1Y0
    • O95621
    • Q4ZG34
    • Q6GPH8
    • Q8IYP4

    Protein attributes for PSD4 Gene

    Size:
    1056 amino acids
    Molecular mass:
    116249 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PSD4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PSD4 Gene

Proteomics data for PSD4 Gene at MOPED

Post-translational modifications for PSD4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PSD4 Gene

No data available for DME Specific Peptides for PSD4 Gene

Domains & Families for PSD4 Gene

Gene Families for PSD4 Gene

Suggested Antigen Peptide Sequences for PSD4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NDX1

UniProtKB/Swiss-Prot:

PSD4_HUMAN :
  • Contains 1 PH domain.
Domain:
  • Contains 1 PH domain.
  • Contains 1 SEC7 domain.
genes like me logo Genes that share domains with PSD4: view

Function for PSD4 Gene

Molecular function for PSD4 Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor for ARF6 and ARL14/ARF7. Through ARL14 activation, controls the movement of MHC class II-containing vesicles along the actin cytoskeleton in dendritic cells. Involved in membrane recycling. Interacts with several phosphatidylinositol phosphate species, including phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 4,5-bisphosphate.

Gene Ontology (GO) - Molecular Function for PSD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005543 phospholipid binding IEA --
genes like me logo Genes that share ontologies with PSD4: view
genes like me logo Genes that share phenotypes with PSD4: view

Animal Model Products

miRNA for PSD4 Gene

miRTarBase miRNAs that target PSD4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PSD4 Gene

Localization for PSD4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PSD4 Gene

Cell membrane. Note=Accumulates in dynamic actin-rich membrane ruffles and microvilli-like structures. Recruited to membranes via phosphatidylinositol phosphate-binding.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PSD4 Gene COMPARTMENTS Subcellular localization image for PSD4 gene
Compartment Confidence
cytosol 3
plasma membrane 3
nucleus 2

No data available for Gene Ontology (GO) - Cellular Components for PSD4 Gene

Pathways & Interactions for PSD4 Gene

SuperPathways for PSD4 Gene

Superpath Contained pathways
1 Endocytosis
genes like me logo Genes that share pathways with PSD4: view

Pathways by source for PSD4 Gene

1 KEGG pathway for PSD4 Gene

Gene Ontology (GO) - Biological Process for PSD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with PSD4: view

No data available for SIGNOR curated interactions for PSD4 Gene

Drugs & Compounds for PSD4 Gene

(3) Drugs for PSD4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with PSD4: view

Transcripts for PSD4 Gene

Unigene Clusters for PSD4 Gene

Pleckstrin and Sec7 domain containing 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PSD4 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c · 13d ^ 14a · 14b ^ 15a · 15b ^ 16a ·
SP1: - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - -
SP4: - - - - - -
SP5: - - - - -
SP6: - - -
SP7: -
SP8: - -
SP9: -
SP10: - - -
SP11: - -
SP12:
SP13:

ExUns: 16b ^ 17a · 17b ^ 18a · 18b · 18c · 18d · 18e
SP1: -
SP2: -
SP3: -
SP4: -
SP5: - -
SP6:
SP7: -
SP8: - -
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for PSD4 Gene

GeneLoc Exon Structure for
PSD4
ECgene alternative splicing isoforms for
PSD4

Expression for PSD4 Gene

mRNA expression in normal human tissues for PSD4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PSD4 Gene

This gene is overexpressed in Whole Blood (x11.8).

Protein differential expression in normal tissues from HIPED for PSD4 Gene

This gene is overexpressed in Plasma (28.7), Pancreas (11.7), Peripheral blood mononuclear cells (8.6), and CD8 Tcells (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PSD4 Gene



SOURCE GeneReport for Unigene cluster for PSD4 Gene Hs.516306

mRNA Expression by UniProt/SwissProt for PSD4 Gene

Q8NDX1-PSD4_HUMAN
Tissue specificity: Widely expressed. Highest levels of expression are found in placenta, pancreas, spleen, thymus and peripheral blood.
genes like me logo Genes that share expression patterns with PSD4: view

Protein tissue co-expression partners for PSD4 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for PSD4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PSD4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PSD4 35
  • 81.94 (n)
  • 76.75 (a)
PSD4 36
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PSD4 35
  • 82.09 (n)
  • 76.97 (a)
PSD4 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Psd4 35
  • 77.08 (n)
  • 70.98 (a)
Psd4 16
Psd4 36
  • 70 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PSD4 35
  • 92.57 (n)
  • 91.56 (a)
PSD4 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Psd4 35
  • 77.19 (n)
  • 71.24 (a)
oppossum
(Monodelphis domestica)
Mammalia PSD4 36
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PSD4 36
  • 58 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Efa6 36
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea efa-6 36
  • 25 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GEA1 36
  • 8 (a)
ManyToMany
GEA2 36
  • 8 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 22 (a)
OneToMany
Species with no ortholog for PSD4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for PSD4 Gene

ENSEMBL:
Gene Tree for PSD4 (if available)
TreeFam:
Gene Tree for PSD4 (if available)

Paralogs for PSD4 Gene

(2) SIMAP similar genes for PSD4 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PSD4: view

Variants for PSD4 Gene

Sequence variations from dbSNP and Humsavar for PSD4 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs4849167 - 113,183,262(+) CTGGG(C/G/T)GGCTT reference, missense
rs1562277 - 113,182,703(+) AGGAC(A/C/G)GGCTG reference, missense
rs12472091 - 113,183,153(+) CAGAC(C/T)CTTCC reference, missense
rs45487591 - 113,193,119(+) GGACC(A/G)AGCCC reference, missense
rs45574835 - 113,193,310(+) AGCGA(A/G)TCCTC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PSD4 Gene

Variant ID Type Subtype PubMed ID
nsv874897 CNV Loss 21882294
dgv4283n71 CNV Gain 21882294
nsv874900 CNV Loss 21882294

Variation tolerance for PSD4 Gene

Residual Variation Intolerance Score: 61.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.98; 60.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PSD4 Gene

HapMap Linkage Disequilibrium report
PSD4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSD4 Gene

Disorders for PSD4 Gene

Relevant External Links for PSD4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PSD4

No disorders were found for PSD4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PSD4 Gene

Publications for PSD4 Gene

  1. A conserved carboxy-terminal domain of EFA6-family ARF6-guanine nucleotide exchange factors induces lengthening of microvilli-like membrane protrusions. (PMID: 12082148) Derrien V. … Chavrier P. (J. Cell Sci. 2002) 2 3 4 67
  2. EFA6B antagonizes breast cancer. (PMID: 25115298) Zangari J. … Luton F. (Cancer Res. 2014) 3
  3. Defining the membrane proteome of NK cells. (PMID: 19946888) Ghosh D. … Wilkins J.A. (J Mass Spectrom 2010) 3
  4. USP9x-mediated deubiquitination of EFA6 regulates de novo tight junction assembly. (PMID: 20339350) ThAcard D. … Luton F. (EMBO J. 2010) 3
  5. GEP100 links epidermal growth factor receptor signalling to Arf6 activation to induce breast cancer invasion. (PMID: 18084281) Morishige M. … Sabe H. (Nat. Cell Biol. 2008) 3

Products for PSD4 Gene

Sources for PSD4 Gene

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